A10A (p.Ala10Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A10A (p.Ala10Ala) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A10A (p.Ala10Ala) variant details
- p.Ala10Ala
- gnomAD 11-2445128-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.90
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available